Possible human homologue (MIM number)
Cross Species Summary
Intestinal cobalamin malabsorption. Imerslund-Grasbeck syndrome (I-GS); megaloblastic anemia 1 (MGA1)
Clinical Features
"Selective malabsorption of cobalamin (vitamin B(12)) accompanied by proteinuria" (He et al., 2003)
Single Locus
yes
Characterised at a molecular level
No
Phenotype Considered a Defect
yes
References
Note: the references are listed in chronological order, from the most recent to the earliest publications.
2005
- Battersby, IA., Giger, U., Hall, EJ.:
- Hyperammonaemic encephalopathy secondary to selective cobalamin deficiency in a juvenile Border collie., J Small Anim Pract 46:339-44, 2005.
Pubmed reference: 16035451.
2003
- He, Q., Fyfe, JC., Schaffer, AA., Kilkenney, A., Werner, P., Kirkness, EF., Henthorn, PS.:
- Canine Imerslund-Grasbeck syndrome maps to a region orthologous to HSA14q., Mamm Genome 14:758-64, 2003.
Pubmed reference: 14722725.
2000
- Fordyce, H.H., Callan, M.B., Giger, U.:
- Persistent cobalamin deficiency causing failure to thrive in a juvenile beagle, Journal of Small Animal Practice 41:407-410, 2000.
Pubmed reference: 11023127.
1999
- Morgan, L.W., McConnell, J.:
- Cobalamin deficiency associated with erythroblastic anemia and methylmalonic aciduria in a border collie, Journal of the American Animal Hospital Association 35:392-395, 1999.
Pubmed reference: 10493414.
1991
- Fyfe, J.C., Giger, U., Hall, C.A., Jezyk, P.F., Klumpp, S.A., Levine, J.S., Patterson, D.F.:
- Inherited Selective Intestinal Cobalamin Malabsorption and Cobalamin Deficiency in Dogs, Pediatric Research 29:24-31, 1991.
Pubmed reference: 1848001. - Fyfe, J.C., Ramanujam, K.S., Ramaswamy, K., Patterson, D.F., Seetharam, B.:
- Defective Brush-Border Expression of Intrinsic Factor- Cobalamin Receptor in Canine Inherited Intestinal Cobalamin Malabsorption, Journal of Biological Chemistry 266:4489-4494, 1991.
Pubmed reference: 1999430.
